Variant report

Variant	rs73979054
Chromosome Location	chr17:16946559-16946560
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:16944536..16947207-chr17:17109103..17111480,2	MCF-7	breast:
2	chr17:16944416..16947050-chr17:16979219..16983384,3	MCF-7	breast:
3	chr17:16944952..16946961-chr17:17072835..17074607,2	K562	blood:
4	chr17:16945686..16947847-chr3:44621097..44624084,2	MCF-7	breast:
5	chr17:16917707..16920531-chr17:16944662..16947361,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260328	Chromatin interaction
ENSG00000179598	Chromatin interaction
ENSG00000133030	Chromatin interaction
ENSG00000225442	Chromatin interaction
ENSG00000206859	Chromatin interaction
ENSG00000214820	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs1047805	0.90[AMR][1000 genomes]
rs10852843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10852844	0.95[AMR][1000 genomes]
rs10852845	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10852846	0.90[AMR][1000 genomes]
rs11078364	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11078365	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11078366	0.95[ASN][1000 genomes]
rs11078370	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11078371	0.95[AMR][1000 genomes]
rs11078372	0.95[AMR][1000 genomes]
rs11078373	0.90[AMR][1000 genomes]
rs11078375	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1110504	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1110505	0.90[AMR][1000 genomes]
rs11651460	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11651938	0.90[AMR][1000 genomes]
rs11651988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11652079	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11652674	0.87[EUR][1000 genomes]
rs11652678	0.90[AMR][1000 genomes]
rs11652756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11652936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11654247	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11654360	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11654562	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11658084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11658904	1.00[ASN][1000 genomes]
rs12450109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12450213	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12450238	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12450467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12451054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12452303	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12452802	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12601325	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12602124	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12602129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12602867	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16961288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16961412	0.88[AMR][1000 genomes]
rs2292526	0.86[AMR][1000 genomes]
rs3744125	0.90[AMR][1000 genomes]
rs3744127	0.90[AMR][1000 genomes]
rs3744132	0.90[AMR][1000 genomes]
rs3744133	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3744136	0.90[AMR][1000 genomes]
rs3744140	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3826305	0.88[AMR][1000 genomes]
rs4073940	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4074611	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4074612	0.95[AMR][1000 genomes]
rs4074819	0.90[AMR][1000 genomes]
rs4264448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4275916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4283273	0.90[AMR][1000 genomes]
rs4321246	0.86[AMR][1000 genomes]
rs4606773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4621033	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4985695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4985697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4985698	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4985703	0.90[AMR][1000 genomes]
rs4985712	0.97[ASN][1000 genomes]
rs4985714	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4985715	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4985719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4985723	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4985727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4985739	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4985744	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4985747	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55751545	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56009207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57812549	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58326998	0.90[AMR][1000 genomes]
rs58472573	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58814183	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59394251	0.90[AMR][1000 genomes]
rs60128647	0.95[AMR][1000 genomes]
rs61018209	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7207187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7210339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7217970	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7223583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7223686	0.92[ASN][1000 genomes]
rs7223924	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73979053	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73979055	0.96[AFR][1000 genomes]
rs73979058	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73979060	0.95[AMR][1000 genomes]
rs73979061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73979081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73979082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73979083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8064991	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8066111	0.90[AMR][1000 genomes]
rs8067563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8075751	0.97[ASN][1000 genomes]
rs9910011	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv543231	chr17:16926227-16950644	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3355439	chr17:16944752-16947600	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv3341315	chr17:16945077-16947125	Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16945000-16947000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr17:16945000-16947200	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr17:16945000-16948200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr17:16945200-16946800	Active TSS	Ovary	ovary
5	chr17:16945200-16947000	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr17:16945200-16947000	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr17:16945200-16947000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr17:16945200-16947000	Active TSS	Brain Anterior Caudate	brain
9	chr17:16945200-16947000	Active TSS	Fetal Brain Female	brain
10	chr17:16945200-16947000	Active TSS	Psoas Muscle	Psoas
11	chr17:16945200-16947000	Active TSS	Sigmoid Colon	Sigmoid Colon
12	chr17:16945200-16947000	Active TSS	Small Intestine	intestine
13	chr17:16945200-16947200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr17:16945200-16947200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr17:16945200-16947200	Active TSS	Rectal Smooth Muscle	rectum
16	chr17:16945200-16947400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr17:16945200-16947400	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr17:16945200-16947400	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr17:16945200-16947600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr17:16945200-16947600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr17:16945200-16947600	Active TSS	Fetal Kidney	kidney
22	chr17:16945200-16947600	Active TSS	Gastric	stomach
23	chr17:16945200-16947600	Active TSS	Pancreas	Pancrea
24	chr17:16945200-16947800	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr17:16945200-16948400	Active TSS	Aorta	Aorta
26	chr17:16945200-16948400	Active TSS	Esophagus	oesophagus
27	chr17:16945400-16946600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr17:16945400-16946600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr17:16945400-16946600	Active TSS	Primary B cells from peripheral blood	blood
30	chr17:16945400-16946600	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr17:16945400-16946600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr17:16945400-16946600	Active TSS	Muscle Satellite Cultured Cells	--
33	chr17:16945400-16946600	Active TSS	Colonic Mucosa	Colon
34	chr17:16945400-16946600	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr17:16945400-16946600	Active TSS	Thymus	Thymus
36	chr17:16945400-16946600	Active TSS	Dnd41	blood
37	chr17:16945400-16946800	Active TSS	H1 Cell Line	embryonic stem cell
38	chr17:16945400-16946800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr17:16945400-16946800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr17:16945400-16946800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr17:16945400-16946800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr17:16945400-16946800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr17:16945400-16946800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr17:16945400-16946800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr17:16945400-16946800	Active TSS	Colon Smooth Muscle	Colon
46	chr17:16945400-16946800	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr17:16945400-16946800	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr17:16945400-16946800	Active TSS	HUVEC	blood vessel
49	chr17:16945400-16947000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr17:16945400-16947000	Active TSS	H9 Cell Line	embryonic stem cell

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